Influencia de la suplementación con vitamina D, omega 3 o el uso de una dieta libre de gluten y caseína en el comportamiento de niños y niñas con trastorno del espectro autista / Influence of the vitamin D, omega 3 supplementation or the use of a gluten and casein free diet in the behavior of boys and girls with autism spectrum disorder

La prevalencia de trastorno del espectro autista ha ido en aumento, sin embargo, en Chile no existen lineamientos nutricionales acerca del posible tratamiento de la condición. Es por ello que el objetivo de esta revisión fue analizar la evidencia actual en relación al uso de una dieta libre de gluten y caseína, suplementación de vitamina D y omega 3 y su impacto en el comportamiento de niños/as con trastorno del espectro autista. Hay evidencia con resultados en torno a los beneficios de la suplementación con vitamina D debido a su carácter neuroprotector y su función neuromuscular. A su vez, la evidencia con omega 3 (DHA) es estadísticamente significativa para irritabilidad, hiperactividad, letargo, comportamiento estereotipado, conciencia social, comunicación y disminución de la severidad del autismo. Respecto a la dieta libre de gluten y caseína lo observado es que no existe evidencia que respalde los beneficios que esta exclusión entregaría. Aún falta evidencia para declarar un manejo nutricional específico para el tratamiento de los síntomas gastrointestinales y de comportamiento, más allá de la suplementación con aquellos micronutrientes en déficit.

The prevalence rate of autism spectrum disorder has been increasing, however, in Chile there are no nutritional guidelines about the possible treatment of the condition. That is the reason why the aim of this review is to analyze the current evidence regarding the use of a gluten and casein free diet, vitamin D and omega 3 supplementation and its impact in the behavior of children's with spectrum disorder autistic. There is evidence based on significant results regarding the benefits of vitamin D supplementation due to its neuroprotective character and neuromuscular function. At the same time the omega 3 evidence is statistically significant in the diminution of irritability hyperactivity, lethargy, stereotypical behavior, severity of autism and increase of social consciousness and communication. Regarding the gluten-free and casein-free diet, what was observed is that there is no evidence to support the benefits that this exclusion would provide. The evidence has not been conclusive to declare a specific nutritional management for the treatment of gastrointestinal and behavioral symptoms, beyond supplementation with those micronutrients in deficit.

Caracterización clínica y epidemiológica de pacientes con Covid-19 atendidos en Servicio de Emergencia del Hospital Clínico Universidad de Chile entre marzo y mayo 2020 / Clinical and epidemiological characterization of patients with Covid-19 treated in the Emergency Service of the Hospital Clínico Universidad de Chile between March and May 2020

In December 2019, a novel coronavirus (SARS-CoV-2) emerged in China and has spread globally, creating a pandemic. The objective of this is study is to determinate clinical and epidemiological characteristics of patients with coronavirus en emergency department. The HCUCH Emergency Service treated a total of 6959 patients between March 13th and May 31th, of whom 1.278 were positive and had confirmed with coronavirus. The male sex was the most prevalent (59.7%). The most frequent symptoms in both groups were cough, myalgia and fever. In the group of ambulatory patients, headache stood out in 50% and in hospitalized patients, dyspnea with 67%. The mortality rate in hospitalized patients was 15.6%. Of these, 66.6% were older than 65 years. Regarding diagnosis of hospital discharge, 87.5% correspond to pneumonia. There is a higher prevalence of coronavirus disease in male patients. The most frequent comorbidities in hospitalized patients were HT and DM2. The highest rate of hospitalization and case fatality in people over 65 years of age. This information helps to characterize the profile of patients at risk in which prevention efforts should be focused. (AU)

Preliminary data for performance in hue ordering tests during pregnancy

The visual system of women changes during pregnancy. Few reports have addressed the effects of pregnancy on color vision. We aimed to compare the color vision of women in the first, second, and third trimesters of pregnancy. Fifty women were divided into first (n=10), second (n=10), third trimester pregnancy groups (n=10), and non-pregnant group (n=20). We used the Farnsworth D15 and Lanthony desaturated D15 (D15d) tests. The hue ordering quantified the amount of error (C-index) and the chromatic selectivity of the errors (S-index). Bland-Altman analysis was applied to the hue ordering data. No difference was found for Farnsworth D15 test results obtained from the pregnant groups and the non-pregnant group (P<0.0083). For the Lanthony D15 desaturated test, the third trimester pregnant group had higher C-index and S-index than non-pregnant women and first-trimester pregnant women (P<0.0083). The Bland-Altman analysis showed that the limits of agreement increased as pregnancy advanced, and the errors were biased to the D15d test. In this study, color vision was impaired during pregnancy. Color vision evaluation could be used as an indicator of the functional status of the central vision during pregnancy.

Optimization of the RNeasy Mini Kit to obtain high-quality total RNA from sessile cells of Staphylococcus aureus

Biofilm formed by Staphylococcus aureus is considered an important virulence trait in the pathogenesis of infections associated with implantable medical devices. Gene expression analyses are important strategies for determining the mechanisms involved in production and regulation of biofilm. Obtaining intact RNA preparations is the first and most critical step for these studies. In this article, we describe an optimized protocol for obtaining total RNA from sessile cells of S. aureus using the RNeasy Mini Kit. This method essentially consists of a few steps, as follows: 1) addition of acetone-ethanol to sessile cells, 2) lysis with lysostaphin at 37°C/10 min, 3) vigorous mixing, 4) three cycles of freezing and thawing, and 5) purification of the lysate in the RNeasy column. This simple pre-kit procedure yields high-quality total RNA from planktonic and sessile cells of S. aureus.

Las enfermedades raras / Rare diseases

A partir de la década de los 80, las enfermedades raras han ido adquiriendo un lugar prioritario en los programas de salud y en la opinión pública. Se definen como aquellas que tienen una prevalencia menor a 1:2.000 individuos. En general son enfermedades crónicas, invalidantes y en más de un 80% de origen genético. Se estima que existen entre 7.000 y 8.000 enfermedades raras y que afectan al 6-8% de la población. Dada la baja prevalencia específica de cada afección, hay muy poco conocimiento de parte de la comunidad médica en relación a su diagnóstico y manejo. En este artículo se discute la importancia del diagnóstico de precisión, para su adecuado manejo y asesoramiento genético, también se muestra la importancia del trabajo en redes en las enfermedades de baja prevalencia y se destaca el rol fundamental de las agrupaciones de padres y familiares en promover políticas de salud para los afectados.

From the early 80's rare diseases had achieved a priority role in national health programs and in public opinion. Rare diseases are define as the ones who have a prevalence lower than 1:2000 habs. Generally, they are chronic and life threatening diseases and more than 80% of them are from genetic origin. It is estimated that there are between 7,000 and 8,000 different rare diseases affecting 6-8% of world population. Due to the low prevalence of each disease, there are very poor knowledge in the medical community about their diagnosis and management. In this review we discuss about the importance of the precise molecular diagnosis for the best treatment and genetic counselling; we also showed the importance of working in network in these diseases of low prevalence and we discuss about the fundamental role of parents associations in promoting public health politics for affected people.

Highly symmetriaal crystallization in six rectiinear and well-defined axes fouund in bovine cervical mucus obtained at oestrus: a finding / Cristaización alltamene simétrica con seis ejes rectilíneos y bien deefinidos hallada en moco cervical bovino obtenido en estro

Bovine cervical mucus (BCM) is important for selection and transport of spermatozoa. When air-dried, BCM obtained at oestrus exhibits arborescent crystallizations, among other arrangements. Considering the relevant endocrine and reproductive information indirectly obtained from BCM crystallization, a morphological investigation was carried out to study its crystalline patterns. BCM samples were collected from healthy Holstein Friesian heifers at oestrus, their crystalline patterns photographed and its morphology analyzed. The majority of the crystallizations obtained showed the typical tree-like patterns reported for BCM. However, a highly symmetrical arrangement was found, characterized by a star-like morphology with six straight, highly defined axes that protrude from the same central point, forming 60º angles. In terms of current knowledge, this short report is the first to show this crystallization geometry in BCM, which, additionally, is remarkably similar to P6B mucus reported for periovulatory human cervical mucus. Even though the role of mucus presenting this type of crystallization is as yet unknown for bovines, its possible functions are also briefly discussed here.

El moco cervical bovino es importante para la selección y el transporte espermático. El moco, obtenido durante el estro y secado al aire, exhibe cristalizaciones con formas principalmente arborescentes. Considerando la importante información endocrina y reproductiva que es posible obtener a partir de la cristalización del moco cervical, se efectuó una investigación morfológica con el propósito de estudiar sus patrones cristalinos. Las muestras de moco se obtuvieron de novillas Holstein Friesian en estro; posteriormente, los patrones de cristalización del moco fueron fotografiados para finalmente analizar su morfología. Las cristalizaciones obtenidas correspondieron a típicos patrones arboriformes previamente reportados. Sin embargo, lo que llamó la atención fue el hallazgo de un arreglo altamente simétrico en una novilla, caracterizado por una morfología similar a estrella con seis ejes rectos, bien definidos, que surgen desde el mismo punto central y forman ángulos de 60º. Según nuestro conocimiento, esta comunicación breve reporta por primera vez la presencia de dicha geometría de cristalización en vaquillas, la cual es muy semejante al patrón cristalino subtipo P6 reportado para el moco cervical perioBvulatorio humano. Si bien el rol ejercido por este tipo de cristalización de moco aún se desconoce en bovinos, se discuten aquí sus posibles funciones.

Manejo inicial del politraumatizado / Initial management of politraumatized patient

Trauma is today the first cause of death in young population; Motor vehicle crashes (MVC’s) are the main specific cause. The initial approach of the trauma patient takes place in the prehospital and hospital environment, following a systematic evaluation and priorizing some systems above others. Primary evaluation (with the classic sequence: ABCDE), sets intervention priorities that ultimately target a reduction in trauma early mortality. The in-corporation of ultrasonography in the evaluation of the trauma patient, has been fundamental in searching for injuries that may have been overlooked in the primary evaluation. Injuries that compromise ventilation may cause hypoxemia and hemodynamic instability. Early bleed control is the main therapeutic target in the trauma patient with active hemorrhage, which leads to reduction of early mortality and also prevents future complications. Fluid resuscitation is the main intervention to restore tissue perfusion. Also, the use of transfusional therapy, permissive hypotension and tranexamic acid must also be considered. Emergency Ultrasound is today a fundamental instrument in the initial trauma patient evaluation, because it greatly contributes to the evaluation of ventilatory derangement and hemodynamic instability causes. Finally, one must remember that trauma is a dynamic process, and therefore reevaluating is imperative, especially because findings of neurological deficit or deterioration in time, will ultimately conduct to the diagnose of injuries that cause brain hypoperfusion...

Traslado de pacientes críticos / Critical care transport

Critical care transport is a raising need in health care because patients who have medical conditions that exceed the capabilities of the initial treating facility require timely safe transport to referral centers. Therefore, indications for inter-hospital transfer include the need for specialist intervention, a critical bed not available or ongoing support not provided in the referring hospital. The aim of transferring a critically ill patient to a reference center is to improve prognosis, and this potential benefit must outweigh potential harm derived of eventual complications or adverse events that could happen during transportation, because critically ill patients have a high risk of morbidity and mortality during transport. The most frequent indications of transfer involve time-dependent pathologies, such as Cardiovascular and Neurologic Emergencies. Pre-transport evaluation and stabilization is critical, as it contributes to minimize in-transport risks, and it must consider aspects as adequate monitoring, transportation times and conditions...

Guía clínica: consenso para Chile en enfermedad de Fabry / Clinical guidelines: Chilean consensus in Fabry disease

Fabry's disease is an X-linked recessive inborn error of metabolism of glycosphingolipids, caused by the deficiency of the lisosomal enzyme alpha-galactosidase. It is a rare disease with an estimated incidence rate of approximately 1:80.000 to 1:117,000 births in the general population. Recently, the growing knowledge about this disease has permitted the development of enzyme replacement therapy, which has modified the prognosis and quality of life of these patients. In Chile, the real incidence is unknown, but the increase in the number of patients diagnosed during the last five years, mainly in the north of the country. This guide was prepared with the intention of establishing a consensus for the diagnosis, treatment and monitoring of the patients with Fabry disease based on the present available scientific evidence.

La enfermedad de Fabry es un error innato del catabolismo de los glucoesfingolipidos, de herencia recesiva ligada al cromosoma X, causado por la deficiencia de la enzima lisosomal alfa-galactosidasa A (alfa-gal A). Es un defecto poco frecuente, con una incidencia estimada de 1:80.000 a 1:117.000, entre la población general. Recientemente, el creciente conocimiento acerca de esta enfermedad, ha permitido el desarrollo de la terapia de reemplazo enzimático, la cual ha modificado el pronóstico y calidad de vida de los pacientes. En Chile, se desconoce la incidencia real, pero el aumento del número de pacientes diagnosticados durante los últimos cinco años, principalmente en la zona norte del país, ha generado un mayor interés por esta enfermedad. Esta guía fue elaborada con la intención de establecer un consenso para el diagnóstico, tratamiento y seguimiento de los pacientes con enfermedad de Fabry, basado en la evidencia científica, actualmente disponible.

Chlorhexidine: beta-cyclodextrin inhibits yeast growth by extraction of ergosterol

Chlorhexidine (Cx) augmented with beta-cyclodextrin (β-cd) inclusion compounds, termed Cx:β-cd complexes, have been developed for use as antiseptic agents. The aim of this study was to examine the interactions of Cx:β-cd complexes, prepared at different molecular ratios, with sterol and yeast membranes. The Minimal Inhibitory Concentration (MIC) against the yeast Candida albicans (C.a.) was determined for each complex; the MICs were found to range from 0.5 to 2 µg/mL. To confirm the MIC data, quantitative analysis of viable cells was performed using trypan blue staining. Mechanistic characterization of the interactions that the Cx:β-cd complexes have with the yeast membrane and assessment of membrane morphology following exposure to Cx:β-cd complexes were performed using Sterol Quantification Method analysis (SQM) and scanning electron microscopy (SEM). SQM revealed that sterol extraction increased with increasing β-cd concentrations (1.71 × 10³; 1.4 × 10³; 3.45 × 10³, and 3.74 × 10³ CFU for 1:1, 1:2, 1:3, and 1:4, respectively), likely as a consequence of membrane ergosterol solubilization. SEM images demonstrated that cell membrane damage is a visible and significant mechanism that contributes to the antimicrobial effects of Cx:β-cd complexes. Cell disorganization increased significantly as the proportion of β-cyclodextrin present in the complex increased. Morphology of cells exposed to complexes with 1:3 and 1:4 molar ratios of Cx:β-cd were observed to have large aggregates mixed with yeast remains, representing more membrane disruption than that observed in cells treated with Cx alone. In conclusion, nanoaggregates of Cx:β-cd complexes block yeast growth via ergosterol extraction, permeabilizing the membrane by creating cluster-like structures within the cell membrane, possibly due to high amounts of hydrogen bonding.

Evaluación y manejo psicológico del paciente candidato a cirugía metabólica / Evaluation and psychological management of patient candidate to metabolic surgery

Psychological factors can play a role in the onset, course and the way a patient copes with diabetes; therefore the mental health approach is gaining increasing relevance in the management of the disease. With the advent of metabolic surgery as a new treatmentalternative, assessment of psychosocial variables and pre and postoperative psychological support acquire a significant role in the short and long term outcomes. The objective of thisarticle is to highlight the importance of a proper assessment and treatment of behaviors and mental disorders that can interfere the adherence to post operatory directions, which is fundamental given the high prevalence of psychopathology in this population. The main psychological problems associated with this disease are presented, as well as psychosocialand behavioral domains assessed pre and post operatively. Patients must have realistic expectations regarding the surgery and be aware of their responsibility in the outcomes,committing themselves to change their lifestyle and self-care. Continuous follow up that includes psychological support and treatment if necessary is required.

Enfermedades neurogenéticas en niños y adolescentes / Neurogenetics diseases in children y adolescents

Los avances en el conocimiento de la genética, han modificado en forma determinante la práctica de la Neurología clínica, aportando a una explosiva expansión del área de las enfermedades Neurogenéticas. El advenimiento de nuevas técnicas de genética molecular; las investigaciones en el genoma humano y la descripción de nuevas formas de herencia, han contribuido a la comprensión de la fisiopatología de estas condiciones y han abierto nuevas perspectivas para su tratamiento. En este articulo se describen los mecanismos clásicos y "no tradicionales" de herencia de las enfermedades neurogenéticas, se destaca los elementos cínicos que orientan a su diagnóstico y se revisa las enfermedades de diagnóstico más frecuente: su presentación clínica, las correlaciones genotipo/fenotipo, los estudios recomendados para su diagnóstico y consejo genético.

The great advances in genetic research reached during last years, have deeply modified the routine clinical practice in Neurology, with an specific impact in the expanding field of neurogenetíc dísorders. New technologies in molecular genetics, the research in the human genome and the description of new forms of inheritance have contributed to the understanding of the physíopathology of these conditions and ha ve also open new perspectives to their treatment. In this report we describe classic and "non traditional" mechanisms of inheritance of neurogenetic disorders, highlighting the key clinical fea tu res to suspect their diagnosis. The most frequent neurogenetic disorders are reviewed, special/y regarding their clinical presentation, genotype/phenotype correlation, recommended methodology used for the diagnosis and genetíc counseling.

Citogenética prenatal / Prenatal cytogenetic

Las afecciones cromosómicas son responsables de un alto porcentaje de las muertes prenatales y neonatales. El realizar un adecuado y oportuno diagnóstico prenatal es fundamental para que el equipo médico y la familia estén preparados de la mejor forma para recibir y tratar al recién nacido. En esta publicación se describe la experiencia de 18 años (1989-2007) del Laboratorio de Citogenética de Clínica Las Condes en el diagnóstico citogenético prenatal. Durante este período se realizaron 2.526 estudios prenatales: 1.446 en vellosidades caria les, 683 en líquido amniótico, 379 en sangre fetal y 18 en otros fluidos (11 líquidos de hidrotórax y 7 orinas fetales), lo que representa un 26% del total de exámenes realizados por el laboratorio durante el período (n= 9.738). El porcentaje de exámenes alterados fue de 20,3%. Se analizan los resultados de acuerdo al tipo de muestra, edad materna, edad gestacional y tipo de alteración encontrada.

Chromosomal abnormalities are the cause of an important number of prenatal and neonatal deaths. Early and reliable prenatal diagnosis is essential for families and for professional teams in order to be prepared to receive and treat in the best way the newborn. In this report we describe the 18 years experience (19892007) of the Cytogenetics Lab of Clinica Las Condes in cytogenetical prenatal diagnosis. During this period 2526 prenatal cytogenetics analysis were performed (1446 corionic villi sample, 683 amniotic fIuid, 379 fetal blood and 18 in others fIuids (11 fluid from hydrothorax and 7 fetal urine); this represents 26% of the total samples analyzed at the Lab during this period (n= 9738). The percentage of abnormal results was 20,3%. We present and discuss the results according to type of sample, maternal age, gestational age, and type of chromosomal abnormalities detected.

Panhipopituitarismo y diabetes insípida secundarios a hipofisitis linfocitaria en una paciente con trisomia 12p / Panhypopituitarism and diabetes insipidus secondary to a lymphocytic hypophysitis in one patient with trisomy 12p

Lymphocytic hypophysitis (LH) is an uncommon inflammatory disease of the hypophysis. It's female to male ratio of appearance is 9:1. Pregnant women are more affected during the third trimester of pregnancy or postpartum. Clinical and radiological presentation can simulate a hypophyseal adenoma. We report a nonpregnant 13 years old adolescent, with a trisomy 12p, with panhypopituitarism, diabetes insipidus and a selar tumor. It was necessary to differentiate between a germinoma and a LH. The latter was confirmed with the hypophyseal biopsy.

Mercury toxicity in the Amazon: contrast sensitivity and color discrimination of subjects exposed to mercury

We measured visual performance in achromatic and chromatic spatial tasks of mercury-exposed subjects and compared the results with norms obtained from healthy individuals of similar age. Data were obtained for a group of 28 mercury-exposed subjects, comprising 20 Amazonian gold miners, 2 inhabitants of Amazonian riverside communities, and 6 laboratory technicians, who asked for medical care. Statistical norms were generated by testing healthy control subjects divided into three age groups. The performance of a substantial proportion of the mercury-exposed subjects was below the norms in all of these tasks. Eleven of 20 subjects (55 percent) performed below the norms in the achromatic contrast sensitivity task. The mercury-exposed subjects also had lower red-green contrast sensitivity deficits at all tested spatial frequencies (9/11 subjects; 81 percent). Three gold miners and 1 riverine (4/19 subjects, 21 percent) performed worse than normal subjects making more mistakes in the color arrangement test. Five of 10 subjects tested (50 percent), comprising 2 gold miners, 2 technicians, and 1 riverine, performed worse than normal in the color discrimination test, having areas of one or more MacAdam ellipse larger than normal subjects and high color discrimination thresholds at least in one color locus. These data indicate that psychophysical assessment can be used to quantify the degree of visual impairment of mercury-exposed subjects. They also suggest that some spatial tests such as the measurement of red-green chromatic contrast are sufficiently sensitive to detect visual dysfunction caused by mercury toxicity.

Evaluación de delirio agudo en pacientes en ventilación mecánica / Evaluation of acute delirium in patients undergoing mechanical ventilation

Introducción: Dentro de la práctica de enfermería es habitual encontrar a pacientes con alteraciones de tipo cognitivo, especialmente conductuales y de orientación. La evidencia muestra que la prevalencia de delirio en diversos países es cercana al 50 por ciento, y se ha demostrado la utilidad de instrumentos de evaluación realizado por enfermeras/os para diagnosticar delirio. Se desconoce la magnitud de este problema en Chile. Objetivos: Evaluar la aplicación del Instrumento CAM-ICU para el diagnóstico del delirio agudo en pacientes en ventilación mecánica (VM). Evaluar la frecuencia y los potenciales factores asociados.Material y método: Diseño descriptivo prospectivo. Criterios de inclusión: pacientes ingresados a UCI, en VM por más de 24 horas. Criterios de exclusión: Antecedentes de Psicosis o enfermedad neurológica, segundo ingreso a UCI. Fueron capacitadas 2 enfermeras/os para la aplicación de la escala CAM-ICU. La aplicación del instrumento se puede efectuar sólo si el puntaje Escala de Agitación y Sedación de Richmond (RASS) se encuentra entre +4 y -3. Se evaluó diariamente a los pacientes ventilados hasta el momento de desconexión de VM, registrando además: deprivación de sueño, uso de drogas vasoactivas (DVA), benzodiazepinas (BZP) y opioides (OP), temperatura (T°), electrólitos plasmáticos (ELP) y glicemia por hemoglucotest (HGT). Resultados: En dos meses, se evaluaron trece pacientes, edad 67 ± 10, hombres 61,5 por ciento, el 61,6 por ciento de los casos presentaba comorbilidad. En el período evaluado, se encontró uso de DVA en 52,4 porciento, BZP 52,4 por ciento, OP 50,8 por ciento, HGT 140 ± 34 mg/dL. En el período de 63 días de VM, fueron evaluables por CAM-ICU 33 días (52,4 por ciento) y la prevalencia de delirio fue de 48,5 por ciento, mientras que en los 30 días restantes (47,6 por ciento), el índice RASS arrojó sedación profunda y sin respuesta, estados no evaluables.

Introduction: Within the nursery practice setting patients with cognitive disfunctions-specially those related to behavior and confusion-may be found constantly. Evidence shows us that delirium prevalence amounts to 50 percent in various countries and the usefulness of assessment instruments applied by nurses for diagnosing delirium has been proven. In Chile, the magnitude of this problem is not known.Objectives: To evaluate applicability of CAM-ICU Instrument (Confusion Assessment Method for the Intensive Care Unit) for diagnosing acute delirium in mechanically ventilated patients. To assess frequency and potential associated factors. Material and Method: A prospective descriptive method was applied in this study. Inclusion criteria: patients admitted to ICU undergoing mechanical ventilation for longer than 24 hours. Exclusion criteria: patients with psychosis or neurological diseases records; second admittion to UCI. For proper application of CAM-ICU Scale two nurses were trained. This instrument can only be applied if the Richmond Agitation and Sedation Scale (RASS) score is between +4 y -3.Mechanically ventilated patients were assessed on a daily basis until their MV weaning. Sleep deprivation, use of vasoactive drugs (VAD), benzodiazepines (BZP) and opioids (OP), temperature (Tº), plasmatic electrolytes (PEL), and glycemia (hemogluco-test) (HGT) were also recorded. Results: In a two-month period, thirteen (13) patients were evaluated; age 67±10; 61.5 percent male; 61.6 percent of the cases presented comorbility. During assessment period, use of VAD in 52.4 percent; BZP in 52.4 percent; OP in 50.8 percent, and HGT 140±34 mg/dL were reported. During a 63-day period of MV, 33 (52.4 percent) days were assessable through CAM-ICU and delirium prevalence was 48.5 percent, while in the remaining 33 days (47.6 percent), the RASS index revealed deep sedation and no response to voice or physical stimulation, both being non-assessable status.

Comparative study of human exposure to mercury in riverside communities in the Amazon region

Four populations in the Amazon area were selected for a comparative study of mercury-exposed and non-exposed populations: São Luiz do Tapajós, Barreiras, Panacauera, and Pindobal Grande. The highest mercury levels in human hair samples were found in São Luiz do Tapajós and Barreiras, greatly exceeding the limits established by the World Health Organization. Panacauera showed an intermediate level below 9 µg/g. This was the first comparative and simultaneous evaluation of mercury exposure in the Amazon area. Also, thanks to this type of monitoring, we were able to eliminate the uncertainties about the reference dose. On the basis of these data, we can conclude that the mercury levels detected in exposed populations of the Tapajós River basin may be dangerous not only because they are above the World Health Organization limits, but also because the simultaneous mercury detection in non-exposed populations with similar characteristics provided a valid control and revealed lower mercury levels. Our results support the importance of continuous monitoring in both exposed and non-exposed populations.

Tamizaje clínico y análisis de mutaciones en el gen FMR1 en 99 varones con características clínicas del síndrome de X-frágil / Clinical screening and FMR1 gene mutation analysis in male patients with Fragile X syndrome

Introducción: El síndrome de X frágil (SXF) es una causa frecuente de retraso mental (RM), se presenta en 1 de 4 000 hombres y en 1 de 8 000 mujeres. A nivel molecular existen principalmente tres tipos de alteraciones: premutación, mutación completa y mosaicos, todas las cuales corresponden a amplificación del trinucleótido CGG localizado en el primer exón del gen FMR1: las premutaciones presentan entre 52 y 200 repetidos; las mutaciones completas, sobre 200 CGG, presentan hipermetilación de la región promotora del gen FMR1 e inhibición de la expresión de la proteína FMRP, causante del RM y dismorfias características de este síndrome. Los mosaicos presentan mutación completa y premutación o metilación parcial del gen FMR1. Los pacientes con SXF son diagnosticados clínicamente según un protocolo de tamizaje que considera 15 características clínicas que entrega un puntaje máximo de 30 puntos en individuos afectados. Objetivo: Definir criterios clínicos específicos para población chilena que ayuden a identificar a los individuos que deban ser sometidos a estudios moleculares confirmatorios de SXF. Pacientes y Método: Se consideraron 99 pacientes varones referidos al INTA por presentar retraso mental y características clínicas sugerentes del SXF; a todos se les realizó evaluación clínica utilizando el protocolo descrito por Buttler y estudio molecular con análisis directo del gen FMR1 por Southern blot. Resultados: 23 de los 99 pacientes estudiados presentaron una mutación en FMR1 y puntaje clínico entre 16 y 27 puntos; los 76 casos restantes con puntajes clínicos entre 10 y 26 puntos, no presentaron mutación en el gen FMR1. Se evaluaron las características clínicas en ambos grupos y se observó que 4 de ellas se asocian significativamente a la mutación, siendo tres de ellas independientes de la edad de los pacientes. Conclusiones: Con estos resultados y a fin de optimizar el estudio molecular directo del gen FMR1, proponemos que el criterio de selección de pacientes sea a través del examen clínico y que todo individuo con puntaje ³ 15 puntos debe ser sometido al estudio molecular.